ArticleJournal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale
Idiopathic Hypogonadotropic Hypogonadism with a Rare Hemi-Arrhinia: A Case Report with Nasal Reconstruction.
Article in Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
ImportanceIdiopathic hypogonadotropic hypogonadism (IHH) associated with congenital hemi-arrhinia is rare but can substantially impact patients' quality of life. The underlying genetic etiology remains to be clarified, and surgical approaches for reconstructing congenital hemi-arrhinia are sparsely reported.ObjectiveTo provide a reference for clinical diagnosis and management by reporting the patient's genetic findings and surgical outcomes.DesignCase report.SettingTertiary public referral hospital.ParticipantsA patient diagnosed with IHH and congenital hemi-arrhinia.Intervention or ExposuresWhole-exome sequencing was performed, and the patient's nose was reconstructed using the contralateral nasal dorsum flap as the inner lining, an L-strut of rib and costal cartilage graft as the structural support, and a pre-expanded forehead flap as the outer skin envelope.Main Outcome MeasuresOne-year postoperative outcomes were evaluated using the Rhinoplasty Outcome Evaluation (ROE) and Nasal Obstruction Symptom Evaluation (NOSE) scales.ResultsWhole-exome sequencing revealed maternally and paternally inherited missense mutations in Gonadotropin-Releasing Hormone Receptor (GNRHR) (c.719G > A) and KISS1 (c.58G > A), respectively. One-year follow-up demonstrated stable nasal reconstruction, with the ROE score improving from 4 to 17 out of 24. The NOSE score remained 1 out of 20 pre- and postoperatively, indicating no significant change in nasal airflow perception.ConclusionsThe 4-stage surgical procedure is a viable and effective reconstructive option for hemi-arrhinia.RelevanceOur genetic findings may serve as a reference for investigating the underlying causes of IHH. The described surgical approach provides a practical reference for surgeons performing hemi-nose reconstruction.
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